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NM_001372574.1(ATXN2):c.1856A>T (p.Glu619Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000418291.1

Allele description [Variation Report for NM_001372574.1(ATXN2):c.1856A>T (p.Glu619Val)]

NM_001372574.1(ATXN2):c.1856A>T (p.Glu619Val)

Gene:
ATXN2:ataxin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.12
Genomic location:
Preferred name:
NM_001372574.1(ATXN2):c.1856A>T (p.Glu619Val)
HGVS:
  • NC_000012.12:g.111509899T>A
  • NG_011572.2:g.94778A>T
  • NG_011572.3:g.94778A>T
  • NM_001310121.1:c.1541A>T
  • NM_001310123.1:c.1469A>T
  • NM_001372574.1:c.1856A>TMANE SELECT
  • NM_002973.4:c.1856A>T
  • NP_001297050.1:p.Glu514Val
  • NP_001297052.1:p.Glu490Val
  • NP_001359503.1:p.Glu619Val
  • NP_002964.4:p.Glu619Val
  • LRG_864t1:c.1856A>T
  • LRG_864:g.94778A>T
  • LRG_864p1:p.Glu619Val
  • NC_000012.11:g.111947703T>A
  • NM_002973.3:c.2336A>T
  • NR_132311.2:n.2137A>T
Protein change:
E490V
Links:
dbSNP: rs760490040
NCBI 1000 Genomes Browser:
rs760490040
Molecular consequence:
  • NM_001310121.1:c.1541A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310123.1:c.1469A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001372574.1:c.1856A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002973.4:c.1856A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_132311.2:n.2137A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000522225GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 22, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000522225.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The E779V variant in the ATXN2 gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. The E779V variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E779V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammalian species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E779V as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022